Canonical Allele Identifier: CA16602637

Gene: PDGFRA

Linked Data

• ClinVar Variation Id: 376182
• ClinVar RCV Id: RCV000434301
• dbSNP Id: rs1057519812
• MyVariant Identifiers: chr4:g.55144144T>C (hg19) ; chr4:g.54277977T>C (hg38)
• PubMed: PMID:24132921

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.54277977T>C , CM000666.2:g.54277977T>C	GRCh38
NC_000004.11:g.55144144T>C , CM000666.1:g.55144144T>C	GRCh37
NC_000004.10:g.54838901T>C	NCBI36
NG_009250.1:g.53881T>C , LRG_309:g.53881T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000257290.10:c.1973T>C MANE Select	ENSP00000257290.5:p.Val658Ala
ENST00000257290.9:c.1973T>C	ENSP00000257290.5:p.Val658Ala
ENST00000461294.2:n.211T>C
ENST00000507166.5:c.1253T>C	ENSP00000423325.1:p.Val418Ala
ENST00000507536.1:n.399T>C
ENST00000509092.5:n.1791T>C
ENST00000509490.5:c.1973T>C	ENSP00000424218.1:p.Val658Ala
NM_006206.4:c.1973T>C , LRG_309t1:c.1973T>C	NP_006197.1:p.Val658Ala
XM_005265743.1:c.1973T>C	XP_005265800.1:p.Val658Ala
XM_006714039.2:c.2048T>C	XP_006714102.1:p.Val683Ala
XM_006714041.2:c.2048T>C	XP_006714104.1:p.Val683Ala
XM_011534385.1:c.1973T>C	XP_011532687.1:p.Val658Ala
XM_011534386.1:c.1973T>C	XP_011532688.1:p.Val658Ala
NM_001347827.1:c.1973T>C	NP_001334756.1:p.Val658Ala
NM_001347828.1:c.2048T>C	NP_001334757.1:p.Val683Ala
NM_001347829.1:c.1973T>C	NP_001334758.1:p.Val658Ala
NM_001347830.1:c.2012T>C	NP_001334759.1:p.Val671Ala
NM_006206.5:c.1973T>C	NP_006197.1:p.Val658Ala
XM_006714041.3:c.2048T>C	XP_006714104.1:p.Val683Ala
XM_017008281.1:c.2012T>C	XP_016863770.1:p.Val671Ala
NM_006206.6:c.1973T>C MANE Select	NP_006197.1:p.Val658Ala
NM_001347827.2:c.1973T>C	NP_001334756.1:p.Val658Ala
NM_001347828.2:c.2048T>C	NP_001334757.1:p.Val683Ala
NM_001347829.2:c.1973T>C	NP_001334758.1:p.Val658Ala
NM_001347830.2:c.2012T>C	NP_001334759.1:p.Val671Ala